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ENOrotic Aciduria (ORAC1)
Alias:
Orotate Phosphoribosyltransferase and Orotidylic Decarboxylase Deficiency
Orotidylic Pyrophosphorylase and Orotidylic Decarboxylase Deficiency
Uridine Monophosphate Synthase Deficiency
Hereditary Orotic Aciduria, Type 1
Oprt and Odc Deficiency
Ump Synthase Deficiency
Orotic Aciduria I
Umps Deficiency
Hereditary Orotic Aciduria
Orotic Aciduria Ii
Orotic Aciduria 1
Oroticaciduria 1
Aciduria, Orotic
Oroticaciduria
Orac1
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Orotic Aciduria, also known as orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency, is related to hereditary orotic aciduria and lysinuric protein intolerance. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone marrow and bone, and related phenotypes are failure to thrive and global developmental delay
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MALACARDS
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